Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000144307 | SCV000934203 | pathogenic | Angelman syndrome | 2018-12-18 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the UBE3A gene (p.Lys836Argfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the UBE3A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals referred for genetic testing for suspected Angelman syndrome (PMID: 25212744). ClinVar contains an entry for this variant (Variation ID: 155984). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the UBE3A protein. Other variant(s) that disrupt this region (p.Glu837Argfs*4) have been determined to be pathogenic (PMID: 11748306, 20034088). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Miraca Genetics Laboratories, |
RCV000144307 | SCV000172058 | pathogenic | Angelman syndrome | 2014-02-14 | no assertion criteria provided | clinical testing |